Table 1 Participant preferences and design requirements for a health system-led direct contact for cascade screening [12]

• Patients generally support direct contact but have concerns about who is responsible for notifying relatives and how privacy will be protected

• The main rationale for direct contact programs is the potential health benefit of notifying relatives of actionable genetic risk

• Direct contact should be a program rather than an individual provider’s responsibility

• Direct contact is a complement to, not replacement of, patient-led notification

Health systems should:

• Obtain patient consent before contacting relatives

• Employ multiple attempts and communication channels to reach relatives

• Provide relatives with the opportunity to decide which information they want to receive and how to act on it

• Clearly state their reason for contacting relatives and offer information on potential risks and related diseases

• Make clear recommendations for genetic testing and follow-up steps

• Continue providing patients with support and written resources to share with their relatives